Laura Ranum, Ph.D.

Professor
Department of Molecular Genetics and Microbiology
University of Florida College of Medicine

Dr. Ranum’s group uses human genetics to define the molecular causes of neurological disorders (such as ataxia) and mouse models to understand how these mutations cause neurons in the brain to die. Many neurodegenerative diseases begin later in life after the nervous system is fully developed. A major step towards a better understanding of neurodegenerative diseases was made with the discovery that microsatellite repeat expansions are responsible for a large group (>30) of these diseases. In these disorders, extra copies of short DNA repeats (e.g. CTG•CAG or CCTG•CAGG) cause disease. In general, these mutations are thought to cause disease by protein loss-of-function, protein gain-of-function or by RNA gain of function mechanisms.